Monosomy 18p is a risk factor for facioscapulohumeral dystrophy

Judit Balog; Remko Goossens; Richard J L F Lemmers; Kirsten R Straasheijm; Patrick J van der Vliet; Anita van den Heuvel; Chiara Cambieri; Nicolas Capet; Léonard Feasson; Veronique Manel; Julian Contet; Marjolein Kriek; Colleen M Donlin-Smith; Claudia A L Ruivenkamp; Patricia Heard; Stephen J Tapscott; Jannine D Cody; Rabi Tawil; Sabrina Sacconi; Silvère M van der Maarel

doi:10.1136/jmedgenet-2017-105153

Article info

Genotype-phenotype correlations

Original article

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy

Authors

Judit Balog Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
Remko Goossens Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
Richard J L F Lemmers Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
Kirsten R Straasheijm Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
Patrick J van der Vliet Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
Anita van den Heuvel Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
Chiara Cambieri Department of Neurology and Psychiatry, Rare Neuromuscular Diseases Center, Sapienza University of Rome, Rome, Italy PubMed articles Google scholar articles
Nicolas Capet Peripheral Nervous System, Muscle and ALS Department, Université Côte d’Azur, Nice, France PubMed articles Google scholar articles
Léonard Feasson Laboratoire Interuniversitaire de Biologie de la Motricité, Université de Lyon, Université Jean Monnet-Saint-Etienne, Saint-Etienne, France Unité de Myologie, Centre Hospitalier Universitaire de Saint-Etienne, Centre Référent Maladies Neuromusculaires EURO-NMD, Saint-Etienne, France PubMed articles Google scholar articles
Veronique Manel Service d’Epileptologie Clinique, des Troubles du Sommeil-et de Neurologie Fonctionnelle de l’Enfant, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France PubMed articles Google scholar articles
Julian Contet Institute for Research on Cancer and Aging of Nice, Faculty of Medicine, Université Côte d’Azur, Nice, France PubMed articles Google scholar articles
Marjolein Kriek Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
Colleen M Donlin-Smith Neuromuscular Disease Unit, Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA PubMed articles Google scholar articles
Claudia A L Ruivenkamp Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles
Patricia Heard Chromosome 18 Research Center, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA PubMed articles Google scholar articles
Stephen J Tapscott Division of Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA PubMed articles Google scholar articles
Jannine D Cody Chromosome 18 Research Center, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA PubMed articles Google scholar articles
Rabi Tawil Neuromuscular Disease Unit, Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA PubMed articles Google scholar articles
Sabrina Sacconi Peripheral Nervous System, Muscle and ALS Department, Université Côte d’Azur, Nice, France Institute for Research on Cancer and Aging of Nice, Faculty of Medicine, Université Côte d’Azur, Nice, France PubMed articles Google scholar articles
Silvère M van der Maarel Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands PubMed articles Google scholar articles

Correspondence to Dr Judit Balog, Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands; J.Balog{at}lumc.nl

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Citation

Balog J, Goossens R, Lemmers RJLF, et al

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy

Journal of Medical Genetics 2018;55:469-478.

Publication history

Received November 14, 2017
Revised February 15, 2018
Accepted February 19, 2018
First published March 21, 2018.

Online issue publication

June 25, 2018

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